Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXON 9 MUTATION
KIT EXON 9 MUTATION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients who failed previous treatments with at least imatinib and sunitinib. Of 30 genotyped patients treated with regorafenib, those with KIT exon 9 mutant GISTs (n=3) experienced decreased progression free survival as compared to patients with KIT exon 11 mutated GISTs (n=19) or wildtype (lacking KIT or PDGFRA mutations) GISTs (n= 8). The difference in PFS was significant between Exon 9 and 11 mutant GISTs (P = .01). Median PFS for the whole cohort was 10.0 months. Regorafenib treatment induced clinical benefit (defined as complete response, partial response, stable disease <16 weeks) in 2/3 patients with KIT exon 9 mutant GISTs.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4139
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/509
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
B
Clinical Significance
Reduced Sensitivity
Pubmed
22614970
Drugs
Drug NameSensitivitySupported
RegorafenibN/Atrue